Susceptibility to Viral Infections
Gene: ITKEnsemblGeneIds (GRCh38): ENSG00000113263
EnsemblGeneIds (GRCh37): ENSG00000113263
OMIM: 186973, Gene2Phenotype
ITK is in 8 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
At least three families reported, abnormal host response to EBV.
Sources: Expert listCreated: 29 Apr 2020, 8:36 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Lymphoproliferative syndrome 1, MIM# 613011; EBV- associated B cell lymphoproliferation, lymphoma
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert list
- Phenotypes
-
- Lymphoproliferative syndrome 1, MIM# 613011
- EBV- associated B cell lymphoproliferation, lymphoma
- OMIM
- 186973
- Clinvar variants
- Variants in ITK
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: itk has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: itk has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: ITK was added gene: ITK was added to Susceptibility to Viral Infections. Sources: Expert list Mode of inheritance for gene: ITK was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ITK were set to 19425169; 22289921; 21109689 Phenotypes for gene: ITK were set to Lymphoproliferative syndrome 1, MIM# 613011; EBV- associated B cell lymphoproliferation, lymphoma Review for gene: ITK was set to GREEN